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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-169796832-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=169796832&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LRRC34",
"hgnc_id": 28408,
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Cys274Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001172779.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.2403,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6356414556503296,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 464,
"aa_ref": "C",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2383,
"cdna_start": 1177,
"cds_end": null,
"cds_length": 1395,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001172779.2",
"gene_hgnc_id": 28408,
"gene_symbol": "LRRC34",
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Cys274Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000446859.7",
"protein_coding": true,
"protein_id": "NP_001166250.1",
"strand": false,
"transcript": "NM_001172779.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 464,
"aa_ref": "C",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2383,
"cdna_start": 1177,
"cds_end": null,
"cds_length": 1395,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000446859.7",
"gene_hgnc_id": 28408,
"gene_symbol": "LRRC34",
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Cys274Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001172779.2",
"protein_coding": true,
"protein_id": "ENSP00000414635.1",
"strand": false,
"transcript": "ENST00000446859.7",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 432,
"aa_ref": "C",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1899,
"cdna_start": 1163,
"cds_end": null,
"cds_length": 1299,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000522526.6",
"gene_hgnc_id": 28408,
"gene_symbol": "LRRC34",
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Cys242Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429278.2",
"strand": false,
"transcript": "ENST00000522526.6",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 436,
"aa_ref": "C",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2047,
"cdna_start": 841,
"cds_end": null,
"cds_length": 1311,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000895445.1",
"gene_hgnc_id": 28408,
"gene_symbol": "LRRC34",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Cys246Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565504.1",
"strand": false,
"transcript": "ENST00000895445.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 432,
"aa_ref": "C",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2287,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1299,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_153353.5",
"gene_hgnc_id": 28408,
"gene_symbol": "LRRC34",
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Cys242Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_699184.2",
"strand": false,
"transcript": "NM_153353.5",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 403,
"aa_ref": "C",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2223,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 1212,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001363888.2",
"gene_hgnc_id": 28408,
"gene_symbol": "LRRC34",
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Cys213Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350817.1",
"strand": false,
"transcript": "NM_001363888.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 403,
"aa_ref": "C",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 1212,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000522830.5",
"gene_hgnc_id": 28408,
"gene_symbol": "LRRC34",
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Cys213Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429593.1",
"strand": false,
"transcript": "ENST00000522830.5",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 402,
"aa_ref": "C",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2220,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1209,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001370608.1",
"gene_hgnc_id": 28408,
"gene_symbol": "LRRC34",
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Cys212Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357537.1",
"strand": false,
"transcript": "NM_001370608.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 361,
"aa_ref": "C",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4631,
"cdna_start": 1177,
"cds_end": null,
"cds_length": 1086,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001172780.2",
"gene_hgnc_id": 28408,
"gene_symbol": "LRRC34",
"hgvs_c": "c.821G>A",
"hgvs_p": "p.Cys274Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166251.1",
"strand": false,
"transcript": "NM_001172780.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 300,
"aa_ref": "C",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4471,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 903,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001370609.1",
"gene_hgnc_id": 28408,
"gene_symbol": "LRRC34",
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Cys213Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357538.1",
"strand": false,
"transcript": "NM_001370609.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 56,
"aa_ref": "C",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 467,
"cdna_start": 68,
"cds_end": null,
"cds_length": 171,
"cds_start": 68,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000528597.1",
"gene_hgnc_id": 28408,
"gene_symbol": "LRRC34",
"hgvs_c": "c.68G>A",
"hgvs_p": "p.Cys23Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436883.1",
"strand": false,
"transcript": "ENST00000528597.1",
"transcript_support_level": 3
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 463,
"aa_ref": "C",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2380,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 1392,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011512442.3",
"gene_hgnc_id": 28408,
"gene_symbol": "LRRC34",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Cys273Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510744.1",
"strand": false,
"transcript": "XM_011512442.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 446,
"aa_ref": "C",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2329,
"cdna_start": 1123,
"cds_end": null,
"cds_length": 1341,
"cds_start": 767,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_006713508.5",
"gene_hgnc_id": 28408,
"gene_symbol": "LRRC34",
"hgvs_c": "c.767G>A",
"hgvs_p": "p.Cys256Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713571.1",
"strand": false,
"transcript": "XM_006713508.5",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 418,
"aa_ref": "C",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3502,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 1257,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047447491.1",
"gene_hgnc_id": 28408,
"gene_symbol": "LRRC34",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Cys255Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303447.1",
"strand": false,
"transcript": "XM_047447491.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 402,
"aa_ref": "C",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1961,
"cdna_start": 755,
"cds_end": null,
"cds_length": 1209,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047447492.1",
"gene_hgnc_id": 28408,
"gene_symbol": "LRRC34",
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Cys212Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303448.1",
"strand": false,
"transcript": "XM_047447492.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 318,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1825,
"cdna_start": null,
"cds_end": null,
"cds_length": 957,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895444.1",
"gene_hgnc_id": 28408,
"gene_symbol": "LRRC34",
"hgvs_c": "c.754-2994G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565503.1",
"strand": false,
"transcript": "ENST00000895444.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 286,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1046,
"cdna_start": null,
"cds_end": null,
"cds_length": 861,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942564.1",
"gene_hgnc_id": 28408,
"gene_symbol": "LRRC34",
"hgvs_c": "c.658-2994G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612623.1",
"strand": false,
"transcript": "ENST00000942564.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1475,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000522080.5",
"gene_hgnc_id": 28408,
"gene_symbol": "LRRC34",
"hgvs_c": "n.798G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000522080.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 701,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000522329.1",
"gene_hgnc_id": 28408,
"gene_symbol": "LRRC34",
"hgvs_c": "n.70G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000522329.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3787,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000522596.6",
"gene_hgnc_id": 28408,
"gene_symbol": "LRRC34",
"hgvs_c": "n.803G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000522596.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 756,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000524054.5",
"gene_hgnc_id": 28408,
"gene_symbol": "LRRC34",
"hgvs_c": "n.669G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000524054.5",
"transcript_support_level": 3
},
{
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